{
  "id": 8268,
  "label": "Klinefelter syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0006823",
  "properties": {
    "xrefs": [
      "DOID:1921",
      "EFO:1001006",
      "MEDGEN:44033",
      "MESH:D007713",
      "MedDRA:10023463",
      "NANDO:2200386",
      "NCIT:C34752",
      "SCTID:405769009",
      "UMLS:C0022735",
      "icd11.foundation:1937385304"
    ],
    "synonyms": [
      "47,XXY syndrome",
      "Klinefelter syndrome",
      "Klinefelter's syndrome",
      "Klinefelter's syndrome, XXY",
      "XXY syndrome",
      "XXY syndrome (Klinefelter syndrome)",
      "hypogonadotropic hypogonadism"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18156,
      "label": "sex chromosome disorder of sex development",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4277
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:423530",
          "MESH:D058533",
          "Orphanet:325546",
          "UMLS:C2936421"
        ],
        "synonyms": [
          "Sex chromosome DSD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism."
      },
      "child_count": 7,
      "reference_id": "MONDO:0017975"
    },
    {
      "id": 24425,
      "label": "chromosome X disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19717
      ],
      "type_id": 0,
      "properties": {
        "definition": "Chromosomal disorder in which chromosome X is affected."
      },
      "child_count": 13,
      "reference_id": "MONDO:0700027"
    },
    {
      "id": 24461,
      "label": "trisomy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24460
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:21702",
          "MESH:D014314",
          "NCIT:C3421",
          "UMLS:C0041107"
        ],
        "synonyms": [
          "chromosomal triplication"
        ],
        "definition": "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number."
      },
      "child_count": 23,
      "reference_id": "MONDO:0700065"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18156,
      "label": "sex chromosome disorder of sex development"
    },
    {
      "id": 24425,
      "label": "chromosome X disorder"
    },
    {
      "id": 24461,
      "label": "trisomy"
    }
  ]
}